Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure
Open accessAbstract
The skin’s tendency to sunburn rather than tan is a major risk factor for skin cancer. Here we report a large genome-wide association study of ease of skin tanning in 176,678 subjects of European ancestry. We identify significant association with tanning ability at 20 loci. We confirm previously identified associations at six of these loci, and report 14 novel loci, of which ten have never been associated with pigmentation-related phenotypes. Our results also suggest that variants at the AHR/AGR3 locus, previously associated with cutaneous malignant melanoma the underlying mechanism of which is poorly understood, might act on disease risk through modulation of tanning ability.
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A high-frequency introgressed haplotype in this window influences skin pigmentation levels in Europeans.
“a high-frequency introgressed haplotype that influences skin pigmentation levels in Europeans (Fig. S15)59,60”
From Quantifying the contribution of Neanderthal introgression to the heritability of complex traits (2021) · cites this paper as [60]
The Results section (‘Effect of MC1R variants on tanning ability and hair colour’; page unavailable) says that a haplotype containing multiple MC1R variants was associated with skin pigmentation. Our copy does not identify that haplotype as introgressed or high-frequency, so those parts of the claim are unsupported. (LLM, conf=0.82)
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Self-citation
- Authors
- Visconti, A., Duffy, D. L., Liu, F., Zhu, G., Wu, W., Chen, Y., Hysi, P. G., Zeng, C., Sanna, M., Iles, M. M., Kanetsky, P. A., Demenais, F., Hamer, M. A., Uitterlinden, A. G., Ikram, M. A., Nijsten, T., Martin, N. G., Kayser, M., Spector, T. D., Han, J., Bataille, V., & Falchi, M.
- Affiliations
- King's College London (GB)
- QIMR Berghofer Medical Research Institute (AU)
- Chinese Academy of Sciences (CN)
- Indiana University Indianapolis (US)
- University of Leeds (GB)
- Moffitt Cancer Center (US)
- Erasmus MC (NL)
- Brigham and Women's Hospital (US)
- Corresponding author
- Falchi, Mario
- ORCID
- Venue
- Nature Communications
- Published
- 2018-05-08
- Volume
- 9
- Issue
- 1
- Pages
- 1684-1684
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC5940788
- OpenAlex
- W2799394553
- Cited by
- 103
- References
- 54
- Citations by year
- 2026: 6 · 2025: 7 · 2024: 15 · 2023: 6 · 2022: 19 · 2021: 11 · 2020: 19 · 2019: 14 · 2018: 5 · 2017: 1
- FWCI
- 6.79
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- White Rose Research Online (University of Leeds, The University of Sheffield, University of York) (acceptedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, cc-by)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, cc-by)
- IUScholarWorks (Indiana University) (submittedVersion, cc-by)
- Spiral (Imperial College London) (submittedVersion, cc-by-nc-nd)
- Funders
- Wellcome Trust (P01 CA87969, R01 CA49449, 081878/Z/06/Z, UM1 CA186107, 081878, UM1 CA167552)
- QIMR Berghofer Medical Research Institute
- National Institute for Health and Care Research (P01 CA87969, R01 CA49449, NF-SI-0507-10228, UM1 CA167552, UM1 CA186107, NF-SI-0514-10027)
- British Skin Foundation (5044i)
- King's College London
- European Commission (UM1 CA186107, P01 CA87969, UM1 CA167552, R01 CA49449)
- National Natural Science Foundation of China (91651507)
- ZonMw
- Erasmus Universiteit Rotterdam
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- National Institutes of Health (5r01ca049449-19, NIH-R01, R01 CA49449, CA-49449, UM1-CA167552, CA-167552, CA186107, CA 87969)
- Medical Research Council (UM1 CA167552, UM1 CA186107, R01 CA49449, P01 CA87969)
- National Health and Medical Research Council (UM1 CA186107, P01 CA87969)
- National Cancer Institute (P01CA087969, R01‐CA049449, UM1CA186107, UM1CA167552, U01CA167552)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Dermatology › Skin Protection and Aging
- Keywords
- tanning, sun exposure, skin pigmentation, genetic loci, skin cancer risk, sunburn, cutaneous melanoma, novel genetic variants, European ancestry
- MeSH terms
- Radiation Exposure, Adult, Aged, Carrier Proteins, Chromosome Mapping, Female, United Kingdom, Hair Color, Humans, Male, Melanoma, Middle Aged, Neoplasm Proteins, Neoplasms, Radiation-Induced, Phenotype, Prospective Studies, Risk Factors, Sex Factors, Skin Neoplasms, Sunburn, Receptors, Aryl Hydrocarbon, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study, Suntan, Genetic Loci
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